Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555423217
rs1555423217
CAPN3
2 0.925 0.120 15 42410982 frameshift variant AG/TCATCT delins 0.700 0